PI4KA Gene Summary [Human]
This gene encodes a phosphatidylinositol (PI) 4-kinase which catalyzes the first committed step in the biosynthesis of phosphatidylinositol 4,5-bisphosphate. The mammalian PI 4-kinases have been classified into two types, II and III, based on their molecular mass, and modulation by detergent and adenosine. The protein encoded by this gene is a type III enzyme that is not inhibited by adenosine. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2018]
Details
| Type | Protein Coding |
| Official Symbol | PI4KA |
| Official Name | phosphatidylinositol 4-kinase alpha [Source:HGNC Symbol;Acc:HGNC:8983] |
| Ensembl ID | ENSG00000241973 |
| Bio databases IDs | |
| Aliases | phosphatidylinositol 4-kinase alpha, phosphatidylinositol 4-kinase IIIα, phosphatidylinositol 4-kinase III alpha |
| Synonyms | GIDID2, phosphatidylinositol 4-kinase alpha, phosphatidylinositol 4-kinase α, pi4K230, PI4K-ALPHA, PI4KIII alpha, PI4KIII α, Pi4-kinase, PI4K-α, PIK4, PIK4CA, PIPK II A, PMGYCHA, Ptdins4k ii α, Ptdins 4-kinase, SPG84 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PI4KA often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- kinase
- 1-phosphatidylinositol 4-kinase
- Phosphoinositide 3-kinase, catalytic domain
- Protein Kinases, catalytic domain
- Phosphatidylinositol 3- and 4-kinase
- PI4-kinase N-terminal region
- protein binding
- 1-phosphatidylinositol-4-phosphate 5-kinase
- PI3Ka
Pathways
Biological processes and signaling networks where the PI4KA gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- COVID-19
- autosomal recessive spastic paraplegia type 84
- aortic valve calcification
- uterine leiomyoma
- leiomyomatosis
- perisylvian polymicrogyria with cerebellar hypoplasia and arthrogryposis
- insulin-dependent diabetes mellitus
- organismal death
- renal clear cell adenocarcinoma
role in cell
- replication in
- formation
- formation in
- morphology
- invasion by
- production in
- degradation in
- proliferation
- invasion
- organization
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- detergent resistant lipid raft fraction
- cell surface
- vacuole
- Plasma Membrane
- vesicles
- cytosol
- Golgi membrane
- recycling endosomes
- early endosomes
- late endosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PI4KA gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- signal transduction
- phosphatidylinositol-mediated signaling
- phosphatidylinositol phosphorylation
- phosphatidylinositol biosynthetic process
- phosphorylation
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- focal adhesion
- cytoplasm
- membrane
- Golgi-associated vesicle membrane
- cytosol
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- ATP binding
- protein binding
- cadherin binding
- 1-phosphatidylinositol 4-kinase activity
- kinase activity